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Specimen Collection Manual and Test Catalog

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MYGENVAR MYELOPROLIFERATIVE PANEL, NEXT GENERATION SEQUENCING

Geisinger Epic Procedure Code:  LAB3508    Geisinger Epic ID:  66456

SPECIMEN COLLECTION
Specimen type:  Whole blood
Preferred collection container: 
Alternate collection container: 
3 mL lavender-top (K2 EDTA) tube
Specimen required: 
Three (3) 6 mL pink-top K2 EDTA tubes (minimum 4 mL each) whole blood OR six (6) 3 mL lavender-top K2 EDTA tubes.
Special notes: 
Collect three (3) 6 mL pink-top K2 EDTA tubes OR six (6) 3 mL lavender-top K2 EDTA tubes

SPECIMEN PROCESSING
Processing instructions: 
Mix well immediately. Send/deliver all collection tubes to GMC Molecular Diagnostic Lab. Store at 2-8°C. Do not centrifuge.
Transport temperature: 
Refrigerated, 2-8°C. Send to GMC Molecular Diagnostic Lab.
Specimen stability: 
Refrigerated, 2-8°C: 3 days. Specimen must be extracted within 3 days.
Rejection criteria: 
Wrong collection tube. Improper storage or transport temperature. Stability limits exceeded. Shared or comingled specimens.

TEST DETAILS
Reference interval: 
Negative (no mutations detected).
Additional information: 
For molecular testing, original tube required.
CPT code(s):  81450
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Test includes: 
BCR-ABL1, JAK2, CALR, MPL, and CSF3R mutations detected by Next Generation Sequencing.

RNA Based BCR-ABL1 Fusion Transcript Analysis
Accession Exon/Intron Accession Exon/Intron Isoform
BCR NM_004327 1 ABL1 NM_005157 2 p190 (e1a2)
BCR NM_004327 13, 14 ABL1 NM_005157 2 p210 (e13a2, e14a2)

 

 

 

RNA Based BCR-ABL1 Analysis: Provides qualitative information on the absence or presence of BCR-ABL1 fusion transcripts including the most common BCR-ABL1 transcripts e1a2 (p190), e13a2 (p210), and e14a2 (p210) at = 0.1% frequency in wild-type background. In addition to the e1a2, e13a2, and e14a2 transcript variants, this assay is predicted to detect rare alternative BCR-ABL1 break/fusion events including e19a2 (p230). False negative results are possible if mutant cells are below the analytical sensitivity of the method or alternative break/fusion events that result in unusual BCR-ABL1 transcript types.                                                                                 

DNA Based Variant Detection
Gene Accession Target Exon
CALR NM_004343 1, 2, 3, 4, 5, 6, 7, 8, 9
CSF3R NM_000760 14, 17
NM_156039 14, 17
NM_172313 14, 17, 18
JAK2 NM_004972 12, 13, 14, 15
MPL NM_005373 3, 4, 10, 12

Methodology: 
DNA Extraction
Next Generation Sequencing
RNA extraction
Synonyms: 
BCRABL, BCR-ABL1, p210, p190, JAK2, JAK-2, Janus Tyrosine Kinase 2, CALR, Calreticulin, MPL, Thrombopoietin Receptor, CSF3R, Colony Stimulating Factor 3 Receptor, Thrombocytosis, MPD, Myeloproliferative Disorder, MPDSP
Clinical significance: 
This test detects mutations associated with myeloproliferative disorders that are informative in the diagnosis and management of disease.
Doctoral Director(s): 
Yi Ding MD, PhD
Review Date:  09/24/2024

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